Sickle Cell Disease

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What is Sickle Cell?

Sickle cell disease is a red blood cell disorder. People with this disorder have abnormal hemoglobin which is a protein that red blood cells carry throughout the body. This disease is not contagious, but rather it is inherited from parents. To have sickle cell disease one must inherit the gene from both parents. Red blood cells contain hemoglobin and are usually a rounded shape. This makes the red blood cell flexible so it can move through large and small blood vessels. Though sickle cell disease makes red blood cells sickle shaped. This causes them to not be flexible, which means that the sickle shaped blood cells can block blood vessels or slow the flow of blood.

Types of Sickle Cell

  • Hemoglobin SS Disease: This type of disease is the most common type of sickle cell. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.

  • Hemoglobin SC Disease: This type of disease is the second most common type of sickle cell. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS, but the symptoms are less severe.

  • Hemoglobin SB+ (Beta) Thalassemia: The size of the red blood cell is reduced because less beta protein is made. If inherited with the Hb S gene, you will have Hemoglobin S Beta thalassemia and symptoms are not as severe.

Why People Have Sickle Cell

Sickle cell disease is inherited in an autosomal recessive pattern. This means that a child will not inherit the disease unless both parents pass down a defective copy of the gene. People who inherit one good copy of the gene and one mutated copy are carriers. They are clinically normal, but can still pass the defective gene to their children.

Autosomal Recessive Trait

  • Sickle Cell Anemia is an autosomal recessive trait found in African Americans across the globe.

What is an Autosomal Recessive Trait?
    • “An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.” - Medlineplus

    • If you are born to parents who carry the same autosomal recessive mutation, you have a one in four chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (one in two) chance of inheriting one abnormal gene. This would make you a carrier.

    • In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

  • A 25% chance that the child is born with two normal genes (normal)

  • A 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease)

  • A 25% chance that the child is born with two abnormal genes (at risk for the disease)

These outcomes do not mean that the children will definitely be carriers or be severely affected.

Chromosome and Mutation

Mutations occur on chromosome 11 in the HBB gene. Which is the hemoglobin gene. Sickle cell is a point mutation which is caused by the substitution of another nucleotide base for the one that is supposed to be in a healthy gene.


The symptoms first occur in the child 4 to 6 months after they are born.

    • Excessive fatigue or irritability (from anemia)

    • Fussiness (in babies)

    • Bedwetting (from associated kidney problems)

    • Jaundice (yellowing of the eyes and skin)

    • Swelling and pain in hands and feet

    • Frequent infections

    • Chest pain

These are caused by oxygen that is trapped from reaching areas of the body. Sickle red blood cells also typically live for 10 to 12 days, whereas normal red blood cells live for 90 to 120 days. This also can decrease the rate of red blood cells in the body if someone has sickle cell disease. Poor oxygen delivery can cause damage to organs which include the eyes, liver, spleen, brain, lungs, heart, joints, bones, and skin. The lack of oxygen can also cause sudden attacks of severe pain called crises.

Life Expectancy and Quality

Life expectancy: 40-60 years

Quality of life expectations:

  • LOTS OF DOCTOR VISITS: Make and keep regular appointments with your SCD doctor or medical team. These visits will help to reduce the number of acute problems that need immediate care.
  • Take medicines, including folic acid supplements, exactly as your doctor tells you.
  • Drink plenty of fluids to prevent dehydration.
  • Exercise is important for staying healthy, but overdoing it can trigger a crisis in some people, particularly if they become dehydrated, overheated, or exhausted.
    • Apart of eating healthy
  • Each patient/child is different and will have different types of pain, so different types of procedures will be taken for pain.

Ways to treat/cope the pain:
    • Heating pad
    • Warm bath
    • A massage
    • Physical therapy
    • Acupuncture
    • Distracting and relaxing activities, such as listening to music, talking on the phone, or watching TV

Treatments and Lifestyle Adjustments

Treatments/Cure/Prevention: Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Blood transfusion also helps because it reduces recurrent pain crisis, risks of stroke and other complications.
    • Things that the doctor will prescribe/ We can prescribe:

      • Folic acid is a vitamin that helps the body produce new red blood cells.

      • Pain medicines can help relieve the pain of sickle cell crises.

      • Penicillin or other antibiotics can help prevent infections, though doctors usually stop giving penicillin to kids who have sickle cell disease after the age of 5.

      • Water and drinking lots of fluids can help prevent pain crises; so can avoiding extreme cold or heat

Lifestyle Adjustments:
    • Eat a balanced, healthy diet.
    • Avoid extreme cold or heat.
    • Exercise regularly, but in moderation.
    • Get plenty of rest.
    • Avoid alcohol, drugs, and smoking, which can make sickle cell disease and its symptoms worse..
    • Avoid smoking! Some people with sickle cell disease are prone to lung problems and this can be a big risk for the child.
    • Avoid places where there isn't a lot of oxygen. (For example, it's not a good idea to go hiking at high altitudes or spend lots of time swimming underwater.)
    • Prevent serious infections by contacting your doctor as soon as illness symptoms start. Be sure to get any immunizations (such as pneumonia and flu vaccines) that the doctor recommends, and always call your doctor if you have a high fever (over 101°F/38°C).

Importance of Amniocentesis

  • Amniocentesis: Is critical for parents who have history with diseases in their family, or if one of the parent has a disease themselves. This can help prevent danger to a future child and it gives the parents options for the parents. Amniocentesis gives insight for the parents regarding the future of their child.

  • What is amniocentesis: Amniocentesis is a diagnostic test that may be recommended by your healthcare provider following an abnormal triple test result. Inherited or genetic concerns lead some parents to choose amniocentesis to determine if specific genetic disorders may be present in their baby.

  • How is the procedure performed:
    • Doctors use an ultrasound to find a safe place to put the needle in.
      • Needle goes into amniotic sac.
    • Needle then safely removes the amniotic fluid
    • Amniotic fluid contains cell sheds by the fetus
    • Sent to lab for analysis

  • What does amniocentesis look for:
    • Chromosome abnormalities
    • Neural Tube defects
    • Genetic Disorders
    • Amniocentesis is occasionally used late in pregnancy to assess whether the baby’s lungs are mature enough for the baby to breathe on his own.


  • Side Effects of Amniocentesis:
    • Needle might come in contact with the baby
    • Miscarriage
    • Cramping
    • Leakage of Fluid
    • Minor irritation around the site of punctuation.

  • More Information about amniocentesis:
    • Amniocentesis may also help determine the severity of fetal anemia in babies with Rh disease, and assist your physician determine whether the fetus requires lifesaving blood transfusions.
    • Amniocentesis can be used later in the third trimester for a few reasons. Your healthcare provider may recommend the procedure if your membranes have ruptured prematurely, in order to assess for uterine infections.
    • Amniocentesis is sometimes done to assess lung maturity. If so, this is done shortly before delivery.


  • SCA (Sickle Cell Anemia) affects 1 in 500 African American people, about 72,000 people.
    • About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT).
  • 8% of African American are carriers of the SCA gene
  • SCD affects approximately 100,000 Americans.
  • SCD occurs among about 1 out of every 365 Black or African-American births
  • SCD occurs among about 1 out of every 16,300 Hispanic-American births.

Relative to the rate for the period 1983 through 1986, the SCD mortality rate for the period 1999 through 2002 decreased by:

  • 68% at age 0 through 3 years;
  • 39% at age 4 through 9 years; and
  • 24% at age 10 through 14 years.

More Support and Help

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